Botta, E.

patient c 7orf mutation deletion repair tfiih c 7orf gene patient ttd 31pv nonphotosensitive level trichothiodystrophy genomic stefanini protein region dna repair allele subunit ttd patients transcription italy nonphotosensitive form feature codon nakabayashi severity deletion c .148_152delcacac c 7orf alleles c 7orf protein photosensitivity lehmann patient ttd 16pv disease primers ttd 10ro ttdn 1 fibroblast sequence factor analysis light grant defect study initiation parent disorder response 941 c patients ttd 16pv nardo t patient ttd 11ro .148_152delcacac botta stefanini m nonphotosensitive ttd cases netherland genomic dna frameshift r 2006 wiley-liss p 44 subunits disease gene nonphotosensitive ttd patients hoeijmakers jh p 62 subunit ttd 31pv ttd 11ro nucleotide p.ser heterogeneity symptom 50alafsx jasper number 93profsx column genet 10.1002/ vermeulen result